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GENE - TERM ANNOTATION REPORT

RGD ID: 1305643
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ctnnd1
Name: catenin delta 1
Acc ID: DOID:0080346
Term: blepharocheilodontic syndrome 2
Definition: A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/28301459 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ctnnd1 ISOCTNND1 (Homo sapiens)7240710OMIM  
Ctnnd1 ISOCTNND1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Blepharocheilodontic syndrome 2PMID:25741868 PMID:28301459 PMID:29805042
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